Hs00640435_cn

• Gene Symbol: NDUFA1
• Assay Reference Genome Location: Chr.X:119871720 on build GRCh38
• Cytoband: Xq24

Target Gene Details

• Entrez Gene ID: 4694
• Gene Name: NADH:ubiquinone oxidoreductase subunit A1
• Gene Aliases: CI-MWFE, MWFE, ZNF183
• Location: Chr.X:119871771-119876666 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFA1	NM_004541.3			NP_004532.1

Target Gene Details

• Entrez Gene ID: 7737
• Gene Name: ring finger protein 113A
• Gene Aliases: Cwc24, RNF113, TTD5, ZNF183
• Location: Chr.X:119870532-119871828 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RNF113A	NM_006978.2	1	109	NP_008909.1
	AK314778.1	1	55
	AW001915.1	1	109
	BC020556.1			AAH20556.1
	BC128440.1
	X98253.1	1	108	CAA66907.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv7057	Chr.X:119862293 - 119894925 on Build GRCh38	Insertion	NDUFA1 RNF113A
esv2758888	Chr.X:119823476 - 120195131 on Build GRCh38	Gain	RHOXF2B RHOXF2 NKAP RHOXF1-AS1 LINC01402 UPF3B RHOXF1P1 AKAP14 RHOXF1 NDUFA1 RNF113A

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase, RNA splicing factor

Gene Ontology Categories:

Process(es)

mitochondrial electron transport, NADH to ubiquinone
mitochondrial respiratory chain complex I assembly
snoRNA splicing
mRNA cis splicing, via spliceosome

Function(s)

NADH dehydrogenase (ubiquinone) activity
protein binding
zinc ion binding